Chen, 2015: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
22
|
No
|
Axial hypotonia
-Motor Paroxysmal dyskinesia Cerebellar signs Dysarthria Motor delay Myoclonus Facial twitches Chorea Dyskinesia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
9
|
No
|
Motor delay
Hyperreflexia Myoclonus Delayed gross motor development -Motor Dyskinesia Axial hypotonia Gait impairment Dysarthria Seizures Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
5
|
42
|
Yes
|
Chorea
-Motor Trigger: Anxiety Dyskinesia Postural tremor Tremor (any or unspecified) Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
No
|
Hyperreflexia
Cognitive impairment Cerebellar signs Axial hypotonia Facial twitches Dyskinesia Chorea Dysarthria -Motor Myoclonus Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
29
|
No
|
n.a.
|
||
No
|
♀
|
C
|
USA
|
3
|
71
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
8
|
Yes
|
Axial hypotonia
Dyskinesia Dystonia, limb Gait impairment -Motor Muscular hypotonia Dystonia, axial Motor delay Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
68
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
13
|
No
|
n.a.
|